Incidental Mutation 'IGL01672:Samd3'
ID 103543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd3
Ensembl Gene ENSMUSG00000051354
Gene Name sterile alpha motif domain containing 3
Synonyms LOC268288
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL01672
Quality Score
Status
Chromosome 10
Chromosomal Location 26105605-26148070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26146067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 364 (N364I)
Ref Sequence ENSEMBL: ENSMUSP00000151558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000060716] [ENSMUST00000105519] [ENSMUST00000220219]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040219
SMART Domains Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089

DomainStartEndE-ValueType
low complexity region 154 166 N/A INTRINSIC
low complexity region 204 214 N/A INTRINSIC
MBT 232 332 3.75e-48 SMART
MBT 340 439 3.67e-42 SMART
MBT 448 543 7.5e-48 SMART
low complexity region 604 615 N/A INTRINSIC
low complexity region 662 770 N/A INTRINSIC
SAM 808 875 2.49e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000060716
AA Change: N364I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: N364I

DomainStartEndE-ValueType
SAM 1 66 3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105519
SMART Domains Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089

DomainStartEndE-ValueType
low complexity region 129 141 N/A INTRINSIC
low complexity region 179 189 N/A INTRINSIC
MBT 207 307 3.75e-48 SMART
MBT 315 414 3.67e-42 SMART
MBT 423 518 7.5e-48 SMART
low complexity region 579 590 N/A INTRINSIC
low complexity region 637 745 N/A INTRINSIC
SAM 783 850 2.49e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218585
Predicted Effect unknown
Transcript: ENSMUST00000219738
AA Change: N37I
Predicted Effect possibly damaging
Transcript: ENSMUST00000220219
AA Change: N364I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,618,316 (GRCm39) E203G probably damaging Het
Ano1 G T 7: 144,209,412 (GRCm39) Q206K probably damaging Het
Ap4e1 T A 2: 126,894,109 (GRCm39) S620T probably damaging Het
Arfip1 A T 3: 84,455,339 (GRCm39) probably benign Het
Atp8a2 A T 14: 59,928,982 (GRCm39) M1024K probably benign Het
Brap T C 5: 121,816,908 (GRCm39) probably benign Het
Calcrl T A 2: 84,175,414 (GRCm39) T287S probably damaging Het
Clptm1l G A 13: 73,755,992 (GRCm39) probably null Het
Cpb1 T A 3: 20,329,585 (GRCm39) Q47L probably null Het
Cse1l T C 2: 166,771,887 (GRCm39) I402T probably damaging Het
Dnah17 A G 11: 117,932,986 (GRCm39) S3591P probably damaging Het
Dst T G 1: 34,264,774 (GRCm39) I2322S probably damaging Het
Dync2h1 G A 9: 7,118,884 (GRCm39) R2194* probably null Het
Ecpas A G 4: 58,814,041 (GRCm39) V1355A probably benign Het
Eno4 A G 19: 58,931,977 (GRCm39) N30S possibly damaging Het
Ero1a A C 14: 45,529,887 (GRCm39) S349A probably benign Het
Fat1 C T 8: 45,493,737 (GRCm39) T3938I probably benign Het
Focad T C 4: 88,278,827 (GRCm39) probably null Het
Gnai3 A T 3: 108,016,775 (GRCm39) I343N probably damaging Het
Golph3 T C 15: 12,349,643 (GRCm39) V221A probably benign Het
Gpr153 C A 4: 152,364,370 (GRCm39) S142* probably null Het
Itpr1 C A 6: 108,357,993 (GRCm39) Y557* probably null Het
Nat8f5 A G 6: 85,794,934 (GRCm39) Y9H probably damaging Het
Nbas T C 12: 13,429,650 (GRCm39) V1045A possibly damaging Het
Nol8 T C 13: 49,828,883 (GRCm39) V1047A possibly damaging Het
Or2t48 A C 11: 58,419,948 (GRCm39) L288R probably benign Het
Or5p1 T A 7: 107,916,725 (GRCm39) V208E probably benign Het
Osbpl1a G A 18: 12,899,881 (GRCm39) T178I probably damaging Het
Palld T A 8: 62,330,536 (GRCm39) I114F probably benign Het
Pcca A T 14: 122,927,557 (GRCm39) Y440F probably benign Het
Pclo T C 5: 14,728,549 (GRCm39) probably benign Het
Piwil1 T C 5: 128,827,037 (GRCm39) M599T possibly damaging Het
Pkd1l2 T A 8: 117,807,471 (GRCm39) Y189F possibly damaging Het
Plscr3 A G 11: 69,738,508 (GRCm39) K91R possibly damaging Het
Rars1 A T 11: 35,699,380 (GRCm39) C638S probably damaging Het
Relb T A 7: 19,345,619 (GRCm39) H406L probably benign Het
Ros1 G T 10: 51,977,899 (GRCm39) T1449K possibly damaging Het
Scn2a T A 2: 65,582,278 (GRCm39) I1542N probably damaging Het
Sdk1 T A 5: 142,170,930 (GRCm39) M1931K probably benign Het
Sphk2 T C 7: 45,361,077 (GRCm39) D309G possibly damaging Het
Stil T C 4: 114,889,986 (GRCm39) S825P probably damaging Het
Swt1 C T 1: 151,270,359 (GRCm39) probably null Het
Virma C T 4: 11,527,792 (GRCm39) R1228C probably damaging Het
Xirp2 T A 2: 67,338,846 (GRCm39) H362Q probably benign Het
Zfp451 C A 1: 33,801,247 (GRCm39) M1056I probably benign Het
Zfp458 T A 13: 67,405,300 (GRCm39) M380L probably benign Het
Other mutations in Samd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00532:Samd3 APN 10 26,127,744 (GRCm39) missense probably damaging 1.00
IGL00754:Samd3 APN 10 26,120,425 (GRCm39) missense probably benign 0.19
IGL02211:Samd3 APN 10 26,109,455 (GRCm39) missense probably damaging 1.00
IGL02397:Samd3 APN 10 26,109,474 (GRCm39) missense possibly damaging 0.85
IGL02755:Samd3 APN 10 26,120,475 (GRCm39) missense probably damaging 1.00
IGL02885:Samd3 APN 10 26,147,762 (GRCm39) missense probably benign 0.43
IGL03115:Samd3 APN 10 26,147,606 (GRCm39) missense probably damaging 1.00
IGL03157:Samd3 APN 10 26,139,740 (GRCm39) missense probably benign 0.05
IGL03172:Samd3 APN 10 26,106,064 (GRCm39) missense probably damaging 1.00
BB006:Samd3 UTSW 10 26,127,813 (GRCm39) missense probably damaging 1.00
BB016:Samd3 UTSW 10 26,127,813 (GRCm39) missense probably damaging 1.00
R0034:Samd3 UTSW 10 26,147,398 (GRCm39) splice site probably benign
R0081:Samd3 UTSW 10 26,147,399 (GRCm39) splice site probably benign
R0197:Samd3 UTSW 10 26,147,752 (GRCm39) missense possibly damaging 0.77
R0566:Samd3 UTSW 10 26,120,396 (GRCm39) missense possibly damaging 0.83
R0632:Samd3 UTSW 10 26,120,393 (GRCm39) missense possibly damaging 0.86
R0782:Samd3 UTSW 10 26,146,138 (GRCm39) missense probably damaging 0.97
R0834:Samd3 UTSW 10 26,147,725 (GRCm39) missense probably benign 0.01
R1106:Samd3 UTSW 10 26,147,689 (GRCm39) missense possibly damaging 0.57
R1844:Samd3 UTSW 10 26,127,672 (GRCm39) missense probably damaging 1.00
R1907:Samd3 UTSW 10 26,147,754 (GRCm39) nonsense probably null
R1929:Samd3 UTSW 10 26,139,884 (GRCm39) splice site probably benign
R2925:Samd3 UTSW 10 26,127,785 (GRCm39) missense probably benign 0.37
R5104:Samd3 UTSW 10 26,139,686 (GRCm39) missense possibly damaging 0.61
R5736:Samd3 UTSW 10 26,146,070 (GRCm39) missense probably damaging 1.00
R7120:Samd3 UTSW 10 26,106,864 (GRCm39) missense possibly damaging 0.77
R7437:Samd3 UTSW 10 26,146,004 (GRCm39) missense possibly damaging 0.78
R7510:Samd3 UTSW 10 26,106,006 (GRCm39) missense probably benign
R7599:Samd3 UTSW 10 26,139,711 (GRCm39) missense probably benign 0.00
R7801:Samd3 UTSW 10 26,139,770 (GRCm39) missense possibly damaging 0.57
R7806:Samd3 UTSW 10 26,120,425 (GRCm39) missense probably benign 0.19
R7820:Samd3 UTSW 10 26,109,416 (GRCm39) splice site probably null
R7929:Samd3 UTSW 10 26,127,813 (GRCm39) missense probably damaging 1.00
R8298:Samd3 UTSW 10 26,121,468 (GRCm39) missense probably damaging 1.00
R8979:Samd3 UTSW 10 26,120,428 (GRCm39) missense possibly damaging 0.93
R9381:Samd3 UTSW 10 26,147,643 (GRCm39) missense probably benign 0.08
Posted On 2014-01-21